PMC Links for Nucleotide (Select 1519246100) - PMC

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 63686802.

NRL and CRX define photoreceptor identity and reveal subgroup-specific dependencies in medulloblastoma

Alexandra Garancher, Charles Y. Lin, Morgane Morabito, Wilfrid Richer, Nathalie Rocques, Magalie Larcher, Laure Bihannic, Kyle Smith, Catherine Miquel, Sophie Leboucher, Nirmitha I. Herath, Fanny Dupuy, Pascale Varlet, Christine Haberler, Christine Walczak, Nadine El Tayara, Andreas Volk, Stéphanie Puget, François Doz, Olivier Delattre, Sabine Druillennec, Olivier Ayrault, Robert J. Wechsler-Reya, Alain Eychène, Franck Bourdeaut, Paul A. Northcott, Celio Pouponnot

Cancer Cell. Author manuscript; available in PMC 2019 Feb 9.

Published in final edited form as: Cancer Cell. 2018 Mar 12; 33(3): 435–449.e6. doi: 10.1016/j.ccell.2018.02.006

PMCID:: PMC6368680

Abstract Article PDF–1.5M

Select item 46788983.

NGS-based Molecular diagnosis of 105 eyeGENE^® probands with Retinitis Pigmentosa

Zhongqi Ge, Kristen Bowles, Kerry Goetz, Hendrik P. N. Scholl, Feng Wang, Xinjing Wang, Shan Xu, Keqing Wang, Hui Wang, Rui Chen

Sci Rep. 2015; 5: 18287. Published online 2015 Dec 15. doi: 10.1038/srep18287

PMCID:: PMC4678898

Abstract Article PDF–707K

Select item 44968574.

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa

Chang-Ki Yoon, Nayoung K. D. Kim, Je-Gun Joung, Joo Young Shin, Jung Hyun Park, Hye-Hyun Eum, Hae-ock Lee, Woong-Yang Park, Hyeong Gon Yu

BMC Genomics. 2015; 16(1): 515. Published online 2015 Jul 9. doi: 10.1186/s12864-015-1723-x

PMCID:: PMC4496857

Abstract Article PDF–571K

Select item 39454415.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Feng Wang, Hui Wang, Han-Fang Tuan, Duy H. Nguyen, Vincent Sun, Vafa Keser, Sara J. Bowne, Lori S. Sullivan, Hongrong Luo, Ling Zhao, Xia Wang, Jacques E. Zaneveld, Jason S. Salvo, Sorath Siddiqui, Louise Mao, Dianna K. Wheaton, David G. Birch, Kari E. Branham, John R. Heckenlively, Cindy Wen, Ken Flagg, Henry Ferreyra, Jacqueline Pei, Ayesha Khan, Huanan Ren, Keqing Wang, Irma Lopez, Raheel Qamar, Juan C. Zenteno, Raul Ayala-Ramirez, Beatriz-Buentello-Volante, Qing Fu, David A. Simpson, Yumei Li, Ruifang Sui, Giuliana Silvestri, Stephen P. Daiger, Robert K. Koenekoop, Kang Zhang, Rui Chen

Hum Genet. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Hum Genet. 2014 Mar; 133(3): 331–345. Published online 2013 Oct 24. doi: 10.1007/s00439-013-1381-5

PMCID:: PMC3945441

Abstract Article PDF–1.6M

Select item 31307256.

The expression of retinal cell markers in human retinal pigment epithelial cells and their augmentation by the synthetic retinoid fenretinide

Amanda-Jayne Carr, Anthony A. Vugler, Lu Yu, Maayan Semo, Pete Coffey, Stephen E. Moss, John Greenwood

Mol Vis. 2011; 17: 1701–1715. Published online 2011 Jun 25.

PMCID:: PMC3130725

Abstract Article PDF–3.4M

Select item 29995417.

Comparative Analysis of the Lambda-Interferons IL-28A and IL-29 regarding Their Transcriptome and Their Antiviral Properties against Hepatitis C Virus

Julia Diegelmann, Florian Beigel, Kathrin Zitzmann, Artur Kaul, Burkhard Göke, Christoph J. Auernhammer, Ralf Bartenschlager, Helmut M. Diepolder, Stephan Brand

PLoS One. 2010; 5(12): e15200. Published online 2010 Dec 8. doi: 10.1371/journal.pone.0015200

PMCID:: PMC2999541

Abstract Article PDF–555K

Select item 1378838.

A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes

Nicholas Katsanis, Kim C. Worley, Guillermo Gonzalez, Stephen J. Ansley, James R. Lupski

Proc Natl Acad Sci U S A. 2002 Oct 29; 99(22): 14326–14331. Published online 2002 Oct 21. doi: 10.1073/pnas.222409099

PMCID:: PMC137883

Abstract Article PDF–488K

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